Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.H69fs
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HNF1B

NM_000458.4:p.H69fs

Associated Papers

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract.

Madariaga L et al.

Clinical Kidney Journal, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."